GAR5B_HUMAN
ID GAR5B_HUMAN Reviewed; 922 AA.
AC Q8N5Q1; Q8ND99;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 03-MAY-2011, sequence version 3.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Golgi associated RAB2 interactor protein 5B {ECO:0000305};
GN Name=GARIN5B {ECO:0000312|HGNC:HGNC:25278}; Synonyms=C19orf16, FAM71E2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-247.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 345-922, AND VARIANT
RP 778-GLN--GLU-785 DEL.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 452-922, AND VARIANT
RP 778-GLN--GLU-785 DEL.
RC TISSUE=Thymus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
CC -!- SIMILARITY: Belongs to the GARIN family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH31875.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAH31875.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=CAD38986.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC020922; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC031875; AAH31875.1; ALT_SEQ; mRNA.
DR EMBL; AL834316; CAD38986.2; ALT_INIT; mRNA.
DR EMBL; AK128284; -; NOT_ANNOTATED_CDS; mRNA.
DR RefSeq; NP_001138874.1; NM_001145402.1.
DR AlphaFoldDB; Q8N5Q1; -.
DR BioGRID; 129870; 6.
DR IntAct; Q8N5Q1; 3.
DR STRING; 9606.ENSP00000398617; -.
DR iPTMnet; Q8N5Q1; -.
DR PhosphoSitePlus; Q8N5Q1; -.
DR BioMuta; FAM71E2; -.
DR DMDM; 332278208; -.
DR EPD; Q8N5Q1; -.
DR MassIVE; Q8N5Q1; -.
DR MaxQB; Q8N5Q1; -.
DR PaxDb; Q8N5Q1; -.
DR PeptideAtlas; Q8N5Q1; -.
DR PRIDE; Q8N5Q1; -.
DR ProteomicsDB; 72081; -.
DR Antibodypedia; 62443; 31 antibodies from 10 providers.
DR DNASU; 284418; -.
DR Ensembl; ENST00000424985.3; ENSP00000398617.1; ENSG00000180043.11.
DR GeneID; 284418; -.
DR KEGG; hsa:284418; -.
DR MANE-Select; ENST00000424985.3; ENSP00000398617.1; NM_001145402.2; NP_001138874.1.
DR UCSC; uc002qkr.3; human.
DR CTD; 284418; -.
DR DisGeNET; 284418; -.
DR GeneCards; FAM71E2; -.
DR HGNC; HGNC:25278; GARIN5B.
DR HPA; ENSG00000180043; Tissue enriched (testis).
DR neXtProt; NX_Q8N5Q1; -.
DR OpenTargets; ENSG00000180043; -.
DR VEuPathDB; HostDB:ENSG00000180043; -.
DR eggNOG; ENOG502S1VC; Eukaryota.
DR GeneTree; ENSGT00940000163150; -.
DR HOGENOM; CLU_369171_0_0_1; -.
DR InParanoid; Q8N5Q1; -.
DR OMA; YPPAACL; -.
DR OrthoDB; 602525at2759; -.
DR PhylomeDB; Q8N5Q1; -.
DR TreeFam; TF337884; -.
DR PathwayCommons; Q8N5Q1; -.
DR SignaLink; Q8N5Q1; -.
DR BioGRID-ORCS; 284418; 2 hits in 250 CRISPR screens.
DR ChiTaRS; FAM71E2; human.
DR GenomeRNAi; 284418; -.
DR Pharos; Q8N5Q1; Tdark.
DR PRO; PR:Q8N5Q1; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8N5Q1; protein.
DR Bgee; ENSG00000180043; Expressed in right testis and 15 other tissues.
DR ExpressionAtlas; Q8N5Q1; baseline and differential.
DR Genevisible; Q8N5Q1; HS.
DR InterPro; IPR022168; DUF3699.
DR Pfam; PF12480; DUF3699; 1.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..922
FT /note="Golgi associated RAB2 interactor protein 5B"
FT /id="PRO_0000341369"
FT REGION 244..264
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 292..317
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 373..404
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 424..597
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 758..830
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 842..869
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 292..309
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 427..473
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 496..511
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 536..550
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 760..784
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 778..785
FT /note="Missing (in dbSNP:rs35996821)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_070950"
FT CONFLICT 406
FT /note="L -> P (in Ref. 3; CAD38986)"
FT /evidence="ECO:0000305"
FT CONFLICT 546
FT /note="E -> Q (in Ref. 3; CAD38986 and 4; AK128284)"
FT /evidence="ECO:0000305"
FT CONFLICT 629
FT /note="K -> E (in Ref. 3; CAD38986 and 4; AK128284)"
FT /evidence="ECO:0000305"
FT CONFLICT 711
FT /note="P -> R (in Ref. 3; CAD38986 and 4; AK128284)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 922 AA; 99915 MW; EE358F3AC121E25D CRC64;
MIWLRNRRCL EPLQGTPKWV PVLGELQKTL QKGEYLPLRP LPMFESNFVQ VTHQGGPVFV
NHRTNRLAMG VAASLPGLVL PDILLIGQPA EDRDCSGLVL TRMIPLDLVH LCVHDLSAWR
LKLRLVSGRQ YYLALDAPDN EVGFLFHCWV RLINLLQEPA PTWTPRTTRT APLDMPLAEA
PASTWHLQDQ PISRHAVRVA ERNFPHKTVA AQRQRKAKAL KRSFKSQAVG DSVPLIWSQL
EHADVRKKPA EKKSHSDPRP DRTHTQIRLP EKTSITTWTI FSIISSTANQ TQSSPKACTS
ASDEATGQGH VVESPSHCVS ADSPDGFFLG SCSSLDPCLW HQDTEDLMDS GGSTLSSAAS
GLAPYPPAAC LSTPYSSIPR GREKAGPMGS HQGPGPPPCQ KAPSGLVTSC KAPFLVDQSQ
KLPAVPASSW KPPPGLAPPQ KAPAASAPPR KAPAVPAPSQ KAPAVPAPSQ KAPAIPAPSR
KASAASASPR KASAVPAPPQ KTPPPSQKAP SVPTIPQKAV SPTAPKKKSL LLPAPSQKAL
PTSPTEYQMA LSPPASRGKL PGDFDVLPTG IPGRAVLERS QSGGKPEPVV TVRTQETDVV
EMTTQAKSPE SPFTVTKKES KDILISQTKE VTLEAFRGQG KLEDWAHWAK LEERSPDLPG
VRSKELEQRK RWVKAKELAV EGPSQEHSRP FSVEALTLTK LMITANSKEQ PSKSALVSLP
SWLLATPQAS ATSMMASVPS RPGQLSLLEG KPVVVREQPE SHTWVKEGKR PWGEMKEQPW
GEMKEPPWDP KGPPKVPFRS KPTSASLKRE GISQAPIPLT ASPWEDLRPS PLSETLISKM
EATARASQQP KRVSQEPMRM PAQHPLATVG SSSEILLPML LELETVRNTA TKAEEIQEES
GVLNLLPSLQ HSQHSEWPDA GA
